Canonical Allele Identifier: CA343998592

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057525T>C (hg19) ; chr1:g.197088395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088395T>C , CM000663.2:g.197088395T>C	GRCh38
NC_000001.10:g.197057525T>C , CM000663.1:g.197057525T>C	GRCh37
NC_000001.9:g.195324148T>C	NCBI36
NG_015867.1:g.63300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3309A>G
ENST00000367409.9:c.10022A>G MANE Select	ENSP00000356379.4:p.Asn3341Ser
ENST00000680265.1:c.10244A>G	ENSP00000505384.1:p.Asn3415Ser
ENST00000680710.1:c.9998A>G	ENSP00000506676.1:p.Asn3333Ser
ENST00000294732.11:c.5267A>G	ENSP00000294732.7:p.Asn1756Ser
ENST00000367408.5:c.3017A>G	ENSP00000356378.1:p.Asn1006Ser
ENST00000367409.8:c.10022A>G	ENSP00000356379.4:p.Asn3341Ser
ENST00000612785.1:c.3980A>G	ENSP00000479244.1:p.Asn1327Ser
NM_001206846.1:c.5267A>G	NP_001193775.1:p.Asn1756Ser
NM_018136.4:c.10022A>G	NP_060606.3:p.Asn3341Ser
NM_018136.5:c.10022A>G MANE Select	NP_060606.3:p.Asn3341Ser
NM_001206846.2:c.5267A>G	NP_001193775.1:p.Asn1756Ser